{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1210326768",
  "communityStandardTitle": [
    "NM_014625.4(NPHS2):c.3G= (p.Met1=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516680",
        "rs": 1057516680
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 179575862,
          "referenceAllele": "C",
          "start": 179575861
        }
      ],
      "hgvs": [
        "NC_000001.11:g.179575862C=",
        "CM000663.2:g.179575862C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 179544997,
          "referenceAllele": "C",
          "start": 179544996
        }
      ],
      "hgvs": [
        "NC_000001.10:g.179544997C=",
        "CM000663.1:g.179544997C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 177811620,
          "referenceAllele": "C",
          "start": 177811619
        }
      ],
      "hgvs": [
        "NC_000001.9:g.177811620C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5088,
          "referenceAllele": "G",
          "start": 5087
        }
      ],
      "hgvs": [
        "NG_007535.1:g.5088G=",
        "LRG_887:g.5088G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000639"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 87,
          "referenceAllele": "G",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367615.9:c.3G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356587.4:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750052",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367615.9:c.3G="
          },
          "RefSeq": {
            "hgvs": "NM_014625.4:c.3G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356587.4:p.Met1="
          },
          "RefSeq": {
            "hgvs": "NP_055440.1:p.Met1="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 72,
          "referenceAllele": "G",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367615.8:c.3G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356587.4:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 91,
          "referenceAllele": "G",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367616.4:c.3G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356588.4:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 91,
          "referenceAllele": "G",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_001297575.1:c.3G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001284504.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064933896",
      "coordinates": [
        {
          "allele": "G",
          "end": 91,
          "referenceAllele": "G",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_014625.3:c.3G=",
        "LRG_887t1:c.3G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055440.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 111,
          "referenceAllele": "G",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_005245483.2:c.3G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005245540.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 115,
          "referenceAllele": "G",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_006711529.2:c.3G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711592.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 113,
          "referenceAllele": "G",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_005245483.3:c.3G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005245540.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 121,
          "referenceAllele": "G",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_017002298.1:c.3G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016857787.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558277"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 126,
          "referenceAllele": "G",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_017002299.1:c.3G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016857788.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558278"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 87,
          "referenceAllele": "G",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_001297575.2:c.3G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001284504.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064933896",
      "coordinates": [
        {
          "allele": "G",
          "end": 87,
          "referenceAllele": "G",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_014625.4:c.3G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055440.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697299",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367615.9:c.3G="
          },
          "RefSeq": {
            "hgvs": "NM_014625.4:c.3G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356587.4:p.Met1="
          },
          "RefSeq": {
            "hgvs": "NP_055440.1:p.Met1="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}